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. 2019 Feb 4;10:23. doi: 10.3389/fimmu.2019.00023

Table 2.

Immunological findings in SCID patients.

Patient code Genetic defect WBC/μL P(%) L(%) M(%) E(%) ALC/μl B% Abs counts/μL T% Abs counts/μL Th% Abs counts/μL Tc% Abs counts/μL NK% Abs counts/μL IgG g/L IgA g/L IgM g/L IgE IU/ml
P1 PNP 38200 92 2 6 0 364 42 153 32 116 30 109 2 7 17 62 8.19 1.75 2.17 ND
P2 RAG1 (OS) 14870 19 21 1 59 3123 0 0 11 344 3 94 5 156 82 2561 1.41 0.249 .179 15.3
P3 RFXAP 14300 76 20 3 1 2860 59 1687 38 1087 8.5 243 29 829 2 57 ND ND ND ND
P4 ADA (Leaky/atypical) 12850 84 6 10 0 771 3 23 85 655 34 262 38 293 11 85 2.64 0.56 0.3 28
P5 ZAP70 28850 23 66 5 6 19041 12 2285 73 13900 73 13900 0 0 15 2856 6.18 1.48 1.7 <4.4
P6 RFXAP 5700 54 39 0 7 3078 48 1477 48 1477 11 339 35 1077 3 92 ND ND ND ND
P7 IL2RG 7020 32 43 12 13 3019 97 2928 1.7 51 0.7 21 1 30 1 30 2.7 0.2 0.04 5.3
P8 IL2RG 5750 42 48 10 0 2760 95 2622 0.1 3 0 0 0.1 3 3.2 88 ND ND ND ND
P9 IL2RG 17810 72 15 10 3 2672 82 2191 0 0 0 0 0 0 12 321 1.54 0.235 0.302 735
P10 IL2RG 5390 81 14 6 ND 710 98 695.8 0 0 0 0 0 0 0 0 0.564 1.37 0.231 61.7
P11 ADA 12240 90 1 9 0 160 0 0 0 0 0 0 0 0 1 2 ND ND ND ND
P12 JAK3 (Leaky/atypical) 16370 50 32 6 13 5238 68 3562 26 1362 6 314 19 995 1 52 ND ND ND ND
P13 AK2 570 4 44 33 0 251 29 73 0 1 0 0 0 0 41 103 7.37 0.343 0.92 ND
P14 ADA 11000 ND 0.1 ND ND 11 0 0 0 0 0 0 0 0 0 0 ND ND ND ND
P15 JAK3 34000 80 11 9 0 4752 95 4514 0 0 0 0 0 0 2 95 ND ND ND ND
P16 RAG1 3530 52 36 7 5 1280 42 537.6 34 435.2 2 25.6 18 230.4 17 217.6 10.8 0.239 2.34 ND
P17 ADA 6490 90 1 8 0 80 0 0 0 0 0 0 0 0 100 80 1.41 0.32 0.12 ND
P18 RAG2 9980 93 1 4 2 91 0 0 1 1 0 0 0 0 98 89 0.226 0.239 0.168 <4.45
P19 – (Leaky/atypical) 10500 25 70 4 1 7350 13 956 42 3087 6 441 26 1911 8 588 3.1 1.08 1.97 ND
P20 RFX5 5750 10 62 26 2 3565 36 1283 26 927 6 214 16 570 36 1283 0.641 0.17 4.32 17.3
P21 RFXAP 5630 11 64 23 1 3610 43 1549 44 1585 19 685 19 685 9 324 ND ND ND ND
P22 ADA 8220 38 10 39 13 822 0 0 0 0 0 0 0 0 0.1 13 ND ND ND ND
P23 – 8300 90 2 7 0 130 4 7 2 3 0 0 0 0 89 148 ND ND ND ND
P24 RAG2 7020 74 7.4 12 2.1 491 0 0 0.2 1 0.1 0 0.1 0 99 486 2.14 0.42 0.93 43.7
P25 PRKDC (leaky) 7900 72 17 11 0 1343 47 631 50 672 22 295 28 376 2 27 ND ND ND ND
P26 RAG1 (Leaky/atypical) 8910 72 19 9 0 1693 38 643 43 728 22 372 8 135 13 220 ND ND ND ND
P27 – 20600 87 3 9 1 714 98 700 0.5 4 0.4 0 0 0 1 7 0.75 0.01 0.5 0.1
P28 – 7990 89 2 9 0 160 0.1 0 1 2 0.5 1 0.5 1 14 22 3.11 0.358 0.17 107
P29 JAK3 17720 94 5 2 0 886 93 823 0 0 0 0 0 0 0 0 0.13 0.06 0.14 ND
P30 – 1500 21 65 12 ND 315 0 0 0 0 0 0 0 0 100 315 1.69 0.239 0.168 17.8
P31 IL7RA 5420 61 20.3 17 0.7 1100 86 946 0 0 0 0 0 0 152 0.07 0.06 0.2 2
P32 DCLER1C 21470 73 10 15.2 2 1232 0 0 1 9 0.3 4 0.2 2 99 1220 1.4 0.06 0.04 2
P33 CIITA 11780 30 57 7 6 6750 75 5036 23 1544 8 537 13 873 1 47 0.0683 0.316 4.32 17.3
P34 –(Leaky/atypical) 6700 ND 41 ND ND 2800 32 879 29 797 3 82 4 110 19 522 0.037 0.249 0.239 ND
P35 RAG2 (Leaky/atypical) 4900 40 40 20 0 1940 1 18 65 1165 7 125 31 556 14 251 11.2 0.3 1.87 ND
P36 JAK3 5460 82 6 11 0.2 328 92 301 0 0 0 0 0 0 0 0 0.336 0.246 0.172 <4.45
P37 IL2RG 3610 44 14 38 3 510 90 455 0 0 0 0 0 0 0.5 3 3.96 0.246 0.172 <4.45
P38 RAG1 2440 46 22 31 0 537 0 0 0 0 0 0 0 0 90 483 ND ND ND ND
P39 JAK3 (OS) 19200 60 33 7 0 6330 35 2218 63 3992 11 697 53 3558 0 0 0.936 0.239 0.255 <4.45
P40 JAK3 41130 89 8 3 0 3250 99 3275 0 0 0 0 0 0 0 0 0.878 0.239 0.168 <4.45
P41 IL2RG 3470 88 7 1 4 240 98 238 1 2 1 2 0 0 0 0 0.33 0.45 0.06 ND
P42 RAG1 2500 96 3 1 0 75 0 0 0 0 0 0 0 0 99 74 ND ND ND ND
P43 RAG2 (OS) 13660 9 3 0 28 1250 0 ND 29 357 17 209 8 98 43 529 1.85 0.314 0.217 163
P44 IL2RG (Leaky) 7870 73 19 8 0 1495 65 972 33 493 8 120 24 359 1 15 12.9 0.843 2.07 976
P45 IL2RG 4580 73 15 12 ND 700 98 671 0 0 0 0 0 0 1 3 0.048 0.02 0.015 0
P46 DCLER1C 7930 62 9 29 0 710 0 0 0 0 0 0 0 0 99 709 0.0976 0.239 0.168 4.45
P47 – 11550 46 25 9 17 2930 39 1126 4 116 4 116 0 0 54 1559 ND ND ND ND
P48 RAG 4550 93 5 1 1 210 0 0 0 0 0 0 0 0 3 6 ND ND ND ND
P49 RFXANK 7770 4 67 23 5 5240 12 625 61 3176 34 1770 25 1301 26 1354 0.94 0.239 0.975 17.8
P50 ZAP70 (Atypical) 11240 27 56 15 2 6270 8 504 89 5602 42 2644 46 2895 1 63 2.2 0.6 0.216 ND
P51 RAG1 (OS) 17400 38 55 7 0 9570 0 0 85 8288 ND ND ND ND 8 780 0.179 0.001 0.08 19.8
P52 JAK3 16170 93 3 4 0.1 485 90 437 0 0 0 0 0 0 2.2 10 8.98 1.51 1.8 17.8
P53 ADA 3800 52 18 29 1 680 55 376 35 239 15 103 22 150 6 41 4.68 0.239 0.168 4.45
P54 JAK3 11500 ND 18 ND ND 2403 99.6 2393 0.3 7 0 0 0 0 0 0 1.35 0.25 0.19 0.1
P55 JAK3 (Leaky/atypical) 9270 47 41 11 0.4 3801 37 1406 53 2014 12 456 39 1482 9 342 6.91 0.359 1.61 17.8
P56 – 840 69 20 7 2 580 33 191 67 388 57 330 10 58 0 0 ND ND ND ND
P57 RAG1 2630 69.2 10 14 6 263 1 3 18 47 16 42 3 8 80 210 8.29 0.239 2.1 56

ND, no data; “–,”No mutation identified; OS, Omenn syndrome; WBC, White blood cell; P, polymorphonuclear neutrophils; L, lymphocytes; M, Monocytes; E, Eosinophils; B, basophils; Plt, Platelets; ALC/ul, absolute lymphocyte counts/uL; Th, T Helper cells; Tc, t cytotoxic cells; IgG, immunoglobulin G; IgA, immunoglobulin A; IgM, immunoglobulin M; IgE, immunoglobulin E; IL2RG, Interleukin 2 receptor gamma chain; JAK3, Janus Kinase 3; IL7RA, Interleukin 7 receptor alpha; ADA, Adenosine Deaminase; PNP, Purine nucleoside phosphorylase; AK2, adenylate kinase 2; RAG1/2, Recombination activating gene1/2; DCLER1C, DNA Cross-Link Repair 1C; RFXAP, Regulatory Factor X Associated Protein; RFX5, Regulatory factor 5; RFXANK, Regulatory Factor X Associated Ankyrin Containing Protein); CIITA, Class II Major Histocompatibility Complex Transactivator; ZAP70, Zeta-chain-associated protein kinase 70.